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HLCS Gene(Protein Coding)

Holocarboxylase Synthetase

GCID:
GC21M036750
GIFtS:
60
Genes Participants
UDN Logo

Aliases for HLCS Gene

Aliases for HLCS Gene

  • Holocarboxylase Synthetase 2 3 5
  • Holocarboxylase Synthetase (Biotin-(Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Holocarboxylase Synthetase (Biotin-(Proprionyl-CoA-Carboxylase (ATP-Hydrolysing)) Ligase) 2 3
  • Biotin Apo-Protein Ligase 3 4
  • Holocarboxylase Synthetase (Biotin-[Proprionyl-Coenzyme A-Carboxylase (ATP-Hydrolysing)] Ligase) 2
  • Biotin--[Methylmalonyl-CoA-Carboxytransferase] Ligase 3
  • Biotin--[Methylcrotonoyl-CoA-Carboxylase] Ligase 3
  • Biotin--[Acetyl-CoA-Carboxylase] Ligase 3
  • Biotin--Protein Ligase 3
  • EC 6.3.4.- 4
  • HCS 3

External Ids for HLCS Gene

Previous GeneCards Identifiers for HLCS Gene

  • GC21M034700
  • GC21M037043
  • GC21M037045
  • GC21M038123
  • GC21M023599

Summaries for HLCS Gene

Entrez Gene Summary for HLCS Gene

  • This gene encodes an enzyme that catalyzes the binding of biotin to carboxylases and histones. The protein plays an important role in gluconeogenesis, fatty acid synthesis and branched chain amino acid catabolism. Defects in this gene are the cause of holocarboxylase synthetase deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jun 2011]

GeneCards Summary for HLCS Gene

HLCS (Holocarboxylase Synthetase) is a Protein Coding gene. Diseases associated with HLCS include Holocarboxylase Synthetase Deficiency and Multiple Carboxylase Deficiency. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. GO annotations related to this gene include protein homodimerization activity and biotin binding.

UniProtKB/Swiss-Prot for HLCS Gene

  • Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HLCS Gene

Genomics for HLCS Gene

Products:

  1. Regulatory Element

Regulatory Elements for HLCS Gene

Enhancers for HLCS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21G036989 1.1 ENCODE 41.2 +0.1 89 2.0 HDGF CREB3L1 ARNT ZFP64 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF766 HLCS ENSG00000242553 MORC3 GC21M036965
GH21G036976 1.5 FANTOM5 Ensembl ENCODE 22.6 +13.0 13036 1.2 PKNOX1 ATF1 ARNT WRNIP1 ARID4B ZNF121 ZNF143 ZNF207 KLF7 FOS HLCS TTC3 RIPPLY3 PIGP ENSG00000242553 DYRK1A ENSG00000207416 ENSG00000224790
GH21G036964 1.1 ENCODE 30.7 +24.0 24025 3.2 PKNOX1 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF548 SP3 SMARCB1 ENSG00000242553 HLCS MORC3 TTC3 RPL23AP3 PIGP RIMKLBP1 ENSG00000224790 GC21P036959
GH21G037009 1.3 Ensembl ENCODE 22.7 -19.8 -19833 1.0 PKNOX1 ATF1 ARNT ARID4B DMAP1 ZNF2 ZNF48 YY1 ZNF143 ZNF263 HLCS ENSG00000207416 TTC3 PIGP RIPPLY3 RNU6-696P
GH21G036994 0.7 Ensembl ENCODE 38.6 -4.5 -4468 0.6 CTCF ZBTB33 ETS1 HLCS PIGP TTC3 MRPL20P1 RIPPLY3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HLCS on UCSC Golden Path with GeneCards custom track

Promoters for HLCS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142103 246 1201 HDGF CREB3L1 ARNT ZFP64 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF766

Transcription factor binding sites by QIAGEN in the HLCS gene promoter:

Genomic Location for HLCS Gene

Chromosome:
21
Start:
36,750,888 bp from pter
End:
36,990,246 bp from pter
Size:
239,359 bases
Orientation:
Minus strand

Genomic View for HLCS Gene

Genes around HLCS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HLCS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HLCS Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for HLCS Gene

Proteins for HLCS Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for HLCS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50747-BPL1_HUMAN
    Recommended name:
    Biotin--protein ligase
    Protein Accession:
    P50747
    Secondary Accessions:
    • B2RAH1
    • D3DSG6
    • Q99451

    Protein attributes for HLCS Gene

    Size:
    726 amino acids
    Molecular mass:
    80760 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AK307940; Type=Frameshift; Positions=169; Evidence={ECO:0000305};

neXtProt entry for HLCS Gene

Protein Expression for HLCS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for HLCS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HLCS Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HLCS Gene

Domains & Families for HLCS Gene

Protein Domains for HLCS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for HLCS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P50747

UniProtKB/Swiss-Prot:

BPL1_HUMAN :
  • Belongs to the biotin--protein ligase family.
Family:
  • Belongs to the biotin--protein ligase family.
genes like me logo Genes that share domains with HLCS: view

No data available for Gene Families for HLCS Gene

Function for HLCS Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for HLCS Gene

GENATLAS Biochemistry:
holocarboxylase synthetase,80kDa,cytosolic,with two alternatively spliced isoforms,catalyzing the biotinylation of the four biotin-dependent carboxylases,including the mitochondrial pyruvate carboxylase,propionyl-CoA carboxylase,methylcrotonyl-CoA carboxylase and the cytosolic acetyl-CoA carboxylase
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=224 nM for biotin {ECO:0000269 PubMed:10590022}; Vmax=143.9 pmol/min/mg enzyme {ECO:0000269 PubMed:10590022};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[methylmalonyl-CoA:pyruvate carboxytransferase] = AMP + diphosphate + [methylmalonyl-CoA:pyruvate carboxytransferase].
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[propionyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [propionyl-CoA:carbon-dioxide ligase (ADP-forming)].
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [3-methylcrotonoyl-CoA:carbon-dioxide ligase (ADP-forming)].
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + biotin + apo-[acetyl-CoA:carbon-dioxide ligase (ADP-forming)] = AMP + diphosphate + [acetyl-CoA:carbon-dioxide ligase (ADP-forming)].
UniProtKB/Swiss-Prot Function:
Post-translational modification of specific protein by attachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase, and 3-methylcrotonyl CoA carboxylase.

Enzyme Numbers (IUBMB) for HLCS Gene

Gene Ontology (GO) - Molecular Function for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004077 biotin-[acetyl-CoA-carboxylase] ligase activity IEA --
GO:0004078 biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity IEA --
GO:0004079 biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity IEA --
GO:0004080 biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity IEA,IDA 7842009
genes like me logo Genes that share ontologies with HLCS: view
genes like me logo Genes that share phenotypes with HLCS: view

Human Phenotype Ontology for HLCS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HLCS Gene

Localization for HLCS Gene

Subcellular locations from UniProtKB/Swiss-Prot for HLCS Gene

Cytoplasm. Mitochondrion.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HLCS gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 5
extracellular 2
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IDA 14613969
GO:0005652 nuclear lamina IDA 14613969
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with HLCS: view

Pathways & Interactions for HLCS Gene

genes like me logo Genes that share pathways with HLCS: view

Pathways by source for HLCS Gene

1 BioSystems pathway for HLCS Gene
2 KEGG pathways for HLCS Gene

Gene Ontology (GO) - Biological Process for HLCS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0006768 biotin metabolic process TAS --
GO:0008152 metabolic process IEA --
GO:0008283 cell proliferation IMP 18429047
GO:0009305 protein biotinylation IDA 7842009
genes like me logo Genes that share ontologies with HLCS: view

No data available for SIGNOR curated interactions for HLCS Gene

Drugs & Compounds for HLCS Gene

Products:

  1. Drug

(12) Drugs for HLCS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Biotin Approved Nutra Target 46
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(10) Additional Compounds for HLCS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Biotinyl-5'-AMP
  • (+)-Biotinyl 5'-adenylate
  • 5'-Adenylic acid anhydride with biotin
  • 5'-Adenylic acid monoanhydride with biotin
  • B-AMP
  • beta-AMP
 4130-20-5
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with HLCS: view

Transcripts for HLCS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for HLCS Gene

(13) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(117) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for HLCS Gene

Holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HLCS Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h ^ 11a ·
SP1: - - - - - - - - - -
SP2: -
SP3: - - - - - - - - -
SP4: - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - -
SP8: - -
SP9: - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - -
SP13:
SP14:
SP15:

ExUns: 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20
SP1: - - - -
SP2: - - - -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for HLCS Gene

GeneLoc Exon Structure for
HLCS
ECgene alternative splicing isoforms for
HLCS

Expression for HLCS Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HLCS Gene

mRNA expression in normal human tissues for HLCS Gene
mRNA expression by BioGPS for HLCS GenemRNA expression by GTEx for HLCS Gene

Protein differential expression in normal tissues from HIPED for HLCS Gene

This gene is overexpressed in Lavage (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HLCS Gene



NURSA nuclear receptor signaling pathways regulating expression of HLCS Gene:

HLCS

SOURCE GeneReport for Unigene cluster for HLCS Gene:

Hs.371350

mRNA Expression by UniProt/SwissProt for HLCS Gene:

P50747-BPL1_HUMAN
Tissue specificity: Mostly expressed in muscle, placenta, in lesser extent in the brain, kidney, pancreas, liver and lung.

Evidence on tissue expression from TISSUES for HLCS Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Bone marrow(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HLCS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Organs:
Head and neck:
  • brain
  • eye
  • face
  • head
  • lip
Thorax:
  • diaphragm
  • esophagus
  • lung
Abdomen:
  • kidney
  • stomach
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HLCS: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for HLCS Gene

Orthologs for HLCS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HLCS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia HLCS 34 35
  • 99.27 (n)
dog
(Canis familiaris)
 Mammalia HLCS 34 35
  • 82.02 (n)
cow
(Bos Taurus)
 Mammalia HLCS 34 35
  • 80.07 (n)
rat
(Rattus norvegicus)
 Mammalia Hlcs 34
  • 78.64 (n)
mouse
(Mus musculus)
 Mammalia Hlcs 34 16 35
  • 78.59 (n)
oppossum
(Monodelphis domestica)
 Mammalia HLCS 35
  • 54 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia HLCS 35
  • 50 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves HLCS 34 35
  • 64.57 (n)
lizard
(Anolis carolinensis)
 Reptilia HLCS 35
  • 60 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia hlcs 34
  • 60.84 (n)
zebrafish
(Danio rerio)
 Actinopterygii hlcs 34 35
  • 51.5 (n)
Dr.12060 34
fruit fly
(Drosophila melanogaster)
 Insecta Hcs 35
  • 16 (a)
 OneToOne
worm
(Caenorhabditis elegans)
 Secernentea bpl-1 34 35
  • 42.72 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes BPL1 35 37
  • 20 (a)
 OneToOne
thale cress
(Arabidopsis thaliana)
 eudicotyledons HCS1 34
  • 46.01 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 44 (a)
 OneToOne
Species where no ortholog for HLCS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HLCS Gene

ENSEMBL:
Gene Tree for HLCS (if available)
TreeFam:
Gene Tree for HLCS (if available)

Paralogs for HLCS Gene

No data available for Paralogs for HLCS Gene

Variants for HLCS Gene

Sequence variations from dbSNP and Humsavar for HLCS Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs119103227 other, Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] 36,936,735(-) CTATC(C/T)TTCTC nc-transcript-variant, reference, missense
rs119103228 Pathogenic, Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] 36,759,811(-) CCAAC(A/G)ATATT nc-transcript-variant, reference, missense
rs119103229 Pathogenic, Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] 36,765,170(-) CAGGA(C/T)GGGGA intron-variant, nc-transcript-variant, reference, missense
rs119103230 Pathogenic, Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] 36,759,781(-) AGATC(A/G)GCGGA nc-transcript-variant, reference, missense
rs119103231 Pathogenic, Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] 36,765,044(-) CTGTC(A/G)TGGAA intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for HLCS Gene

Variant ID Type Subtype PubMed ID
dgv1269e212 CNV loss 25503493
dgv814e214 CNV loss 21293372
esv26519 CNV loss 19812545
esv2659201 CNV deletion 23128226
esv2666311 CNV deletion 23128226
esv2676526 CNV deletion 23128226
esv2751929 CNV gain 17911159
esv2763684 CNV gain+loss 21179565
esv3568184 CNV loss 25503493
esv3646977 CNV loss 21293372
esv3646978 CNV loss 21293372
esv3646982 CNV loss 21293372
esv3646983 CNV loss 21293372
nsv1072177 CNV deletion 25765185
nsv1127894 CNV deletion 24896259
nsv1131635 CNV deletion 24896259
nsv1136632 CNV deletion 24896259
nsv1144950 CNV deletion 24896259
nsv1160711 CNV duplication 26073780
nsv3507 CNV deletion 18451855
nsv3508 CNV insertion 18451855
nsv472584 CNV novel sequence insertion 20440878
nsv474050 CNV novel sequence insertion 20440878
nsv498978 CNV loss 21111241
nsv510504 OTHER sequence alteration 20534489
nsv587471 CNV loss 21841781

Variation tolerance for HLCS Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.69; 46.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HLCS Gene

Human Gene Mutation Database (HGMD)
HLCS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HLCS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HLCS Gene

Disorders for HLCS Gene

MalaCards: The human disease database

(9) MalaCards diseases for HLCS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
holocarboxylase synthetase deficiency
  • biotin- ligase deficiency
multiple carboxylase deficiency
  • holocarboxylase synthetase deficiency
biotin deficiency
  • b7 deficiency
biotinidase deficiency
  • biotinidase deficiency multiple carboxylase deficiency, late-onset
organic acidemia
  • organic acid metabolism disorder
- elite association - COSMIC cancer census association via MalaCards
Search HLCS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BPL1_HUMAN
  • Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270]: A neonatal form of multiple carboxylase deficiency, an autosomal recessive disorder of biotin metabolism, characterized by ketoacidosis, hyperammonemia, excretion of abnormal organic acid metabolites, and dermatitis. In holocarboxylase synthetase deficiency, clinical and biochemical symptoms improve dramatically with administration of biotin. {ECO:0000269 PubMed:10190325, ECO:0000269 PubMed:10590022, ECO:0000269 PubMed:11735028, ECO:0000269 PubMed:12124727, ECO:0000269 PubMed:12633764, ECO:0000269 PubMed:16134170, ECO:0000269 PubMed:20095979, ECO:0000269 PubMed:25690727, ECO:0000269 PubMed:7842009, ECO:0000269 PubMed:8541348, ECO:0000269 PubMed:8817339, ECO:0000269 PubMed:9396568}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for HLCS Gene

multiple carboxylase deficiency,early onset with feeding difficulties,hypotonia,seizures,lethargy and metabolic acidosis mild,hyperammonemia,organic aciduria

Relevant External Links for HLCS

Genetic Association Database (GAD)
HLCS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HLCS
genes like me logo Genes that share disorders with HLCS: view

Publications for HLCS Gene

  1. Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA. (PMID: 7842009) Suzuki Y. … Narisawa K. (Nat. Genet. 1994) 2 3 4 22 64
  2. Reduced half-life of holocarboxylase synthetase from patients with severe multiple carboxylase deficiency. (PMID: 18429047) Bailey L.M. … Polyak S.W. (Hum. Mutat. 2008) 3 4 22 64
  3. Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. (PMID: 11735028) Yang X. … Suzuki Y. (Hum. Genet. 2001) 3 4 22 64
  4. Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. (PMID: 10190325) Aoki Y. … Narisawa K. (Hum. Genet. 1999) 3 4 22 64
  5. Gene identification in 1.6-Mb region of the Down syndrome region on chromosome 21. (PMID: 9037601) Ohira M. … Ohki M. (Genome Res. 1997) 3 4 22 64

Products for HLCS Gene

Sources for HLCS Gene

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